Clothilde Ormieres
149 Rue De Sèvres
Paris, 75015, France
Paris, 75015, France
Last Updated: 09/26/2026
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Found 9 publications
CORAIL Center : Switzerland's first pediatric complex care center
Journal: Revue medicale suisse
Published: June 18, 2026
Clinical and molecular overlap between nucleotide excision repair (NER) disorders and DYRK1A haploinsufficiency syndrome.
Journal: Frontiers in neuroscience
Published: December 31, 2024
Genome sequencing for the diagnosis of intellectual disability as a paradigm for rare diseases in the French healthcare setting: the prospective DEFIDIAG study.
Journal: Genome medicine
Published: December 11, 2024
Deciphering the genetic basis of developmental language disorder in children without intellectual disability, autism or apraxia of speech.
Journal: Molecular autism
Published: October 14, 2024
Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability.
Journal: American journal of human genetics
Published: December 08, 2023
BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients.
Journal: European journal of human genetics : EJHG
Published: December 22, 2022
PURA-Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum.
Journal: Neurology. Genetics
Published: November 03, 2020
Biallelic IARS2 mutations presenting as sideroblastic anemia.
Journal: Haematologica
Published: August 28, 2020
Cerebral vasculopathy in children with sickle cell disease: Key issues and the latest data
Journal: Archives de pediatrie : organe officiel de la Societe francaise de pediatrie
Published: February 15, 2017
Showing 1-9 of 9
Last Updated: 09/26/2026